Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1

Known as: MCCRP1, Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 1 
An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by… Expand
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
ABSTRACT Background Microcephaly and chorioretinopathy (MCCRP) is a rare neuro-ophthalmologic disorder that causes microcephaly… Expand
Is this relevant?
2012
2012
Purpose We present a case series of four patients with unilateral, nonprogressive, yellow or white choroidal lesions of unknown… Expand
Is this relevant?
1985
1985
S FROM "NO TO HATTATSU" VOL. 16, PAGES 309-491,1984 ABSTRACTS FROM "NO TO HATTATSU"S FROM "NO TO HATTATSU" Independent from… Expand
Is this relevant?
1978
1978
Features of Aicardi's syndrome include infantile spasms associated with pathognomonic chorioretinopathy, abnormalities of the… Expand
Is this relevant?
1972
1972
  • J. R. E. Bower, Authors‘ Appointments
  • Developmental medicine and child neurology
  • 1972
  • Corpus ID: 34279644
A case of Aicardi's syndrome is described. The main features are infantile spasms, pathognomonic chorioretinopathy, evidence of… Expand
Is this relevant?